title: Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients.
abstract: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. HHT is commonly characterised by small arteriovenous malformations (AVMs) known as telangiectasias of the skin, oral or gastrointestinal mucosa, as well as larger AVMs of solid organs (lungs, liver, brain). However, the manifestations of HHT are extremely variable. Two patients with no family history of HHT and strikingly different clinical presentations, who are mosaic for mutations in the ACVRL1 or ENG gene, are reported here. These cases represent the first report of mosaicism in patients clinically affected with classical HHT and pulmonary arterial hypertension, and suggest the need for awareness of mosaicism when performing clinical testing for this disorder.
authors.affiliation: Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA.
authors.forename: D Hunter
authors.initials: DH
authors.lastname: Best
authors.forename: Cecily
authors.initials: C
authors.lastname: Vaughn
authors.forename: Jamie
authors.initials: J
authors.lastname: McDonald
authors.forename: Kristy
authors.initials: K
authors.lastname: Damjanovich
authors.forename: James R
authors.initials: JR
authors.lastname: Runo
authors.forename: Jason M
authors.initials: JM
authors.lastname: Chibuk
authors.forename: Pinar
authors.initials: P
authors.lastname: Bayrak-Toydemir
mesh_terms: D030301:Activin Receptors, Type II / Q000235:genetics*; D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D001483:Base Sequence; D000071063:Endoglin; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D008875:Middle Aged; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000235:genetics*
chemical_list: D015703:Antigens, CD; C064206:ENG protein, human; D000071063:Endoglin; D011956:Receptors, Cell Surface; C425364:ACVRL1 protein, human; D030301:Activin Receptors, Type II